The DOI matches its Crossref record; 48 of the 48 references it cites were found in a registry or an index.
Serotonin Transporter Promoter Gain-of-Function Genotypes Are Linked to Obsessive-Compulsive Disorder
Open accessAbstract
A functional serotonin transporter promoter polymorphism, HTTLPR, alters the risk of disease as well as brain morphometry and function. Here, we show that HTTLPR is functionally triallelic. The L(G) allele, which is the L allele with a common G substitution, creates a functional AP2 transcription-factor binding site. Expression assays in 62 lymphoblastoid cell lines representing the six genotypes and in transfected raphe-derived cells showed codominant allele action and low, nearly equivalent expression for the S and L(G) alleles, accounting for more variation in HTT expression than previously recognized. The gain-of-function L(A)L(A) genotype was approximately twice as common in 169 whites with obsessive-compulsive disorder (OCD) than in 253 ethnically matched controls. We performed a replication study in 175 trios consisting of probands with OCD and their parents. The L(A) allele was twofold overtransmitted to the patients with OCD. The HTTLPR L(A)L(A) genotype exerts a moderate (1.8-fold) effect on risk of OCD, which crystallizes the evidence that the HTT gene has a role in OCD.
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Cites
Influence of life stress on depression: moderation by a polymorphism in the 5-HTT gene
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Cited by
Menzies, L., Chamberlain, S. R., Laird, A. R., Thelen, S. M., Sahakian, B. J., & Bullmore, E. T. (2008) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2007.09.005 · Cited by 1,190
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Serotonin Transporter (5-HTTLPR) Genotype and Amygdala Activation: A Meta-Analysis
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Population-based study of first onset and chronicity in major depressive disorder
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Metadata
- Authors
- Hu, X.-Z., Lipsky, R. H., Zhu, G., Akhtar, L. A., Taubman, J., Greenberg, B. D., Xu, K., Arnold, P. D., Richter, M. A., Kennedy, J. L., Murphy, D. L., & Goldman, D.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2006-05
- Volume
- 78
- Issue
- 5
- Pages
- 815-826
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2151135161
- Cited by
- 1,123
- References
- 48
- FWCI
- 87.35
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Serotonin Transporter Promoter Gain-of-Function Genotypes Are Linked to Obsessive-Compulsive Disorder. https://app.cochat.ai/papers/10.1086/503850
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- Hu, X.-Z., Lipsky, R. H., Zhu, G., Akhtar, L. A., Taubman, J., Greenberg, B. D., Xu, K., Arnold, P. D., Richter, M. A., Kennedy, J. L., Murphy, D. L., & Goldman, D. (2006). Serotonin Transporter Promoter Gain-of-Function Genotypes Are Linked to Obsessive-Compulsive Disorder. The American Journal of Human Genetics. https://doi.org/10.1086/503850
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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